E34* (p.Glu34Ter) variant of CAV3 (Caveolin-3)
E34* (p.Glu34Ter) in CAV3 (Caveolin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E34* (p.Glu34Ter) variant details
- p.Glu34Ter
- gnomAD 3-8733976-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 50.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available